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intrinsic factor and r binder, combined congenital deficiency of - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intrinsic factor and r binder, combined congenital deficiency of

MONDO:0009471

Overview

GeneticsAutosomal recessive

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Nervous system problems (abnormality of the nervous system), Abnormality of metabolism/homeostasis, Megaloblastic anemia, and Growth delay and 1 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Nervous system problems (abnormality of the nervous system)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intrinsic factor and r binder, combined congenital deficiency of.

3 publications have been identified in PubMed for intrinsic factor and r binder, combined congenital deficiency of. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).

Recent Publications

Derry A (2025). [PMID: 40569048](https://pubmed.ncbi.nlm.nih.gov/40569048/). *Bioinformatics*. [Basic Science / Preclinical]
Wang KB (2024). [PMID: 40809342](https://pubmed.ncbi.nlm.nih.gov/40809342/). *Engineering (Beijing)*. [Basic Science / Preclinical]
Li Y (2024). [PMID: 39715759](https://pubmed.ncbi.nlm.nih.gov/39715759/). *Signal Transduct Target Ther*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:243320

GARD

Genetic and Rare Diseases Info Center

GARD:15190

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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intrinsic factor and r binder, combined congenital deficiency of

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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